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Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.
- Published in:
- 2002
- By:
- Publication type:
- journal article
SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?
- Published in:
- Clinical Genetics, 2024, v. 106, n. 6, p. 757, doi. 10.1111/cge.14608
- By:
- Publication type:
- Article
Association of HLA-B'1502 allele and carbamazepine-induced Stevens.Johnson syndrome among Indians.
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2009, v. 75, n. 6, p. 579, doi. 10.4103/0378-6323.57718
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- Publication type:
- Article
A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L‐2 Hydroxyglutaric Aciduria.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 5, p. 560, doi. 10.1002/mdc3.12967
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- Publication type:
- Article
Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.724824
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- Publication type:
- Article
Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 8, p. 1, doi. 10.1002/mgg3.2505
- By:
- Publication type:
- Article
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 285, doi. 10.1038/jhg.2015.27
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- Publication type:
- Article
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 4, p. 223, doi. 10.1038/jhg.2014.5
- By:
- Publication type:
- Article
Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1041, doi. 10.1002/ajmg.a.38089
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- Publication type:
- Article
Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0687-5
- By:
- Publication type:
- Article
Identification of deletion-duplication in <italic>HEXA</italic> gene in five children with Tay-Sachs disease from India.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0632-7
- By:
- Publication type:
- Article
A case of Raine syndrome presenting with facial dysmorphy and review of literature.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0593-x
- By:
- Publication type:
- Article
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0367-x
- By:
- Publication type:
- Article
Hidradenitis suppurativa (or Acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1-1q25.3 region.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0039122
- By:
- Publication type:
- Article
Harlequin ichthyosis due to novel splice site mutation in the <italic>ABCA12</italic> gene: postnatal to prenatal diagnosis.
- Published in:
- International Journal of Dermatology, 2018, v. 57, n. 4, p. 428, doi. 10.1111/ijd.13923
- By:
- Publication type:
- Article
Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum.
- Published in:
- International Journal of Dermatology, 2015, v. 54, n. 11, p. e487, doi. 10.1111/ijd.13022
- By:
- Publication type:
- Article
Early antenatal diagnosis of spina bifida presenting with a "step" in the posterior contour of an 8-week embryo.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03300-z
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- Publication type:
- Article
Lysosomal storage disorders in Indian children with neuroregression attending a genetic center.
- Published in:
- Indian Pediatrics, 2015, v. 52, n. 12, p. 1029, doi. 10.1007/s13312-015-0768-x
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- Publication type:
- Article
Clinical and Molecular Characterization of Patients with Gross Hypotonia and Impaired Lower Motor Neuron Function.
- Published in:
- Indian Pediatrics, 2013, v. 50, n. 6, p. 591, doi. 10.1007/s13312-013-0168-z
- By:
- Publication type:
- Article
Diagnostic strategy for mucolipidosis II/III.
- Published in:
- Indian Pediatrics, 2012, v. 49, n. 12, p. 975, doi. 10.1007/s13312-012-0247-6
- By:
- Publication type:
- Article
Supernumerary Marker Chromosome in a Child with Microcephaly and Mental Retardation.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Niemann-Pick Type C Disease.
- Published in:
- 2008
- By:
- Publication type:
- Case Study
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0759-1
- By:
- Publication type:
- Article
STR markers for detecting heterogeneity in Indian population.
- Published in:
- Molecular Biology Reports, 2012, v. 39, n. 1, p. 461, doi. 10.1007/s11033-011-0759-5
- By:
- Publication type:
- Article
Vitamin K Insufficiency in the Indian Population: Pilot Observational Epidemiology Study.
- Published in:
- JMIR Public Health & Surveillance, 2022, v. 8, n. 2, p. 1, doi. 10.2196/31941
- By:
- Publication type:
- Article
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 85, doi. 10.1002/jmd2.12407
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- Publication type:
- Article
Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 4, p. 265, doi. 10.1002/jmd2.12374
- By:
- Publication type:
- Article
My Entry into Genetic Prenatal Diagnosis.
- Published in:
- Indian Practitioner, 2023, v. 76, n. 11, p. 36
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- Publication type:
- Article
New Born Screening in India: A Time to Implement National Policy.
- Published in:
- Indian Practitioner, 2021, v. 74, n. 12, p. 38
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- Publication type:
- Article
Application of Genetics in Clinical Practice.
- Published in:
- Indian Practitioner, 2021, v. 74, n. 7, p. 33
- By:
- Publication type:
- Article
Lysosomal Storage Disorders: An Underdiagnosed Metabolic Disorder.
- Published in:
- Indian Practitioner, 2020, v. 73, n. 6, p. 26
- By:
- Publication type:
- Article
STUDY OF ANTICARDIOLIPIN ANTIBODIES IN REPEATED ABORTIONS - AN INSTITUTIONAL EXPERIENCE.
- Published in:
- Indian Journal of Pathology & Microbiology, 2001, v. 44, n. 2, p. 117
- By:
- Publication type:
- Article
Natural history of non-lethal Raine syndrome during childhood.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 1, p. N.PAG, doi. 10.1186/s13052-018-0571-0
- By:
- Publication type:
- Article
Prenatal screening of cytogenetic anomalies - a Western Indian experience.
- Published in:
- BMC Pregnancy & Childbirth, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12884-015-0519-y
- By:
- Publication type:
- Article
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15.
- Published in:
- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0339-z
- By:
- Publication type:
- Article
Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0163-2
- By:
- Publication type:
- Article
Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report.
- Published in:
- BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00796-9
- By:
- Publication type:
- Article
Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Diabetic Foot.
- Published in:
- Bahrain Medical Bulletin, 2014, v. 36, n. 2, p. 78, doi. 10.12816/0004480
- By:
- Publication type:
- Article
Pure interstitial dup(6)(q22.31q22.31) - a case report.
- Published in:
- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0113-y
- By:
- Publication type:
- Article
Pure interstitial dup(6)(q22.31q22.31) - a case report.
- Published in:
- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 47, doi. 10.1186/s13052-015-0113-y
- By:
- Publication type:
- Article
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
- Published in:
- BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03341-0
- By:
- Publication type:
- Article